Incidental Mutation 'R4514:Or52h2'
ID 332797
Institutional Source Beutler Lab
Gene Symbol Or52h2
Ensembl Gene ENSMUSG00000044899
Gene Name olfactory receptor family 52 subfamily H member 2
Synonyms MOR31-7, GA_x6K02T2PBJ9-6924585-6923647, Olfr649
MMRRC Submission 041588-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.057) question?
Stock # R4514 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 103838474-103839412 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 103838598 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 272 (R272H)
Ref Sequence ENSEMBL: ENSMUSP00000102472 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060440] [ENSMUST00000106859]
AlphaFold Q8VGW1
Predicted Effect probably benign
Transcript: ENSMUST00000060440
AA Change: R272H

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000050903
Gene: ENSMUSG00000044899
AA Change: R272H

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srsx 37 308 8.3e-7 PFAM
Pfam:7tm_1 43 294 3.7e-30 PFAM
Pfam:7tm_4 142 287 4.7e-30 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000106859
AA Change: R272H

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000102472
Gene: ENSMUSG00000044899
AA Change: R272H

DomainStartEndE-ValueType
Pfam:7tm_4 33 312 2.9e-111 PFAM
Pfam:7TM_GPCR_Srsx 37 308 8.3e-7 PFAM
Pfam:7tm_1 43 294 5e-20 PFAM
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.6%
  • 10x: 96.9%
  • 20x: 94.1%
Validation Efficiency
MGI Phenotype FUNCTION: Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam5 T G 8: 25,308,152 (GRCm39) T51P probably damaging Het
Akr1c20 A C 13: 4,557,843 (GRCm39) V201G probably damaging Het
Alg9 C T 9: 50,716,654 (GRCm39) T409M possibly damaging Het
Arpp21 T A 9: 112,006,745 (GRCm39) T155S probably damaging Het
Atm T A 9: 53,404,339 (GRCm39) Q1334L probably damaging Het
Bptf G A 11: 106,968,518 (GRCm39) T1055M probably damaging Het
Cd3g C A 9: 44,884,882 (GRCm39) A121S possibly damaging Het
Cenpn A G 8: 117,660,135 (GRCm39) Y68C probably damaging Het
Clock A G 5: 76,378,046 (GRCm39) I618T probably benign Het
Cp A G 3: 20,042,177 (GRCm39) M982V probably damaging Het
Csf3r T A 4: 125,933,653 (GRCm39) S611T possibly damaging Het
Csn3 A G 5: 88,077,997 (GRCm39) T168A unknown Het
Cylc2 C G 4: 51,229,651 (GRCm39) T331R unknown Het
D630003M21Rik T C 2: 158,046,722 (GRCm39) T752A probably benign Het
Defb34 A T 8: 19,176,522 (GRCm39) D71V probably damaging Het
Dync1h1 T A 12: 110,623,573 (GRCm39) D3615E possibly damaging Het
Etl4 A T 2: 20,666,709 (GRCm39) T167S probably damaging Het
F5 T A 1: 163,979,566 (GRCm39) probably benign Het
Got1l1 C T 8: 27,688,513 (GRCm39) M279I probably benign Het
Grm7 A G 6: 111,335,265 (GRCm39) T559A possibly damaging Het
Ifit1 A T 19: 34,625,913 (GRCm39) R350* probably null Het
Ighv2-5 T C 12: 113,649,216 (GRCm39) N79S possibly damaging Het
Igkv17-127 A G 6: 67,838,498 (GRCm39) I70V possibly damaging Het
Itga8 T C 2: 12,187,547 (GRCm39) S711G probably benign Het
Kndc1 A G 7: 139,490,202 (GRCm39) T235A probably benign Het
Lct T C 1: 128,228,251 (GRCm39) I1081V probably benign Het
Lrrc8b G T 5: 105,627,819 (GRCm39) C55F probably damaging Het
Lrwd1 T C 5: 136,160,402 (GRCm39) T311A probably benign Het
Mapk14 T C 17: 28,943,798 (GRCm39) F129S probably damaging Het
Mdga2 A G 12: 66,763,496 (GRCm39) I200T probably damaging Het
Mocos T A 18: 24,816,269 (GRCm39) S615R probably damaging Het
Myh4 T C 11: 67,146,395 (GRCm39) V1456A probably benign Het
Myh9 T C 15: 77,648,200 (GRCm39) I1759V probably benign Het
Nat8f5 G A 6: 85,794,405 (GRCm39) T185I possibly damaging Het
Nav3 T C 10: 109,529,943 (GRCm39) I2133V possibly damaging Het
Ncam2 T A 16: 81,309,884 (GRCm39) M458K probably benign Het
Nphp1 T C 2: 127,590,007 (GRCm39) S532G probably benign Het
Oplah A G 15: 76,182,155 (GRCm39) L1035P probably damaging Het
Or4p22 T C 2: 88,317,709 (GRCm39) V211A probably benign Het
Pask T A 1: 93,249,855 (GRCm39) Q515L probably benign Het
Poglut1 A T 16: 38,369,778 (GRCm39) F35I probably benign Het
Ppp1ca T G 19: 4,245,054 (GRCm39) I319S probably benign Het
Psg25 T A 7: 18,263,533 (GRCm39) R97* probably null Het
Sars2 T C 7: 28,441,709 (GRCm39) probably null Het
Slc15a4 A G 5: 127,681,600 (GRCm39) probably null Het
Slc16a7 T G 10: 125,069,308 (GRCm39) probably null Het
Slc7a8 C G 14: 54,973,247 (GRCm39) G240A possibly damaging Het
St6gal2 A T 17: 55,790,018 (GRCm39) N351Y probably benign Het
Susd5 T C 9: 113,924,992 (GRCm39) F292L probably benign Het
Tmco5 T A 2: 116,710,795 (GRCm39) D38E probably damaging Het
Tubgcp2 G A 7: 139,575,984 (GRCm39) P893L possibly damaging Het
Uncx A G 5: 139,532,522 (GRCm39) I196V possibly damaging Het
Zeb1 G A 18: 5,759,007 (GRCm39) C138Y probably damaging Het
Zfp609 A G 9: 65,610,977 (GRCm39) I662T possibly damaging Het
Zfp985 G A 4: 147,668,020 (GRCm39) C296Y probably damaging Het
Other mutations in Or52h2
AlleleSourceChrCoordTypePredicted EffectPPH Score
PIT4403001:Or52h2 UTSW 7 103,838,667 (GRCm39) missense probably benign 0.24
R0285:Or52h2 UTSW 7 103,838,531 (GRCm39) nonsense probably null
R1203:Or52h2 UTSW 7 103,839,060 (GRCm39) nonsense probably null
R1448:Or52h2 UTSW 7 103,839,082 (GRCm39) missense possibly damaging 0.81
R4925:Or52h2 UTSW 7 103,839,387 (GRCm39) missense possibly damaging 0.85
R6023:Or52h2 UTSW 7 103,838,880 (GRCm39) missense probably damaging 1.00
R7659:Or52h2 UTSW 7 103,839,394 (GRCm39) missense probably benign 0.33
R8049:Or52h2 UTSW 7 103,839,017 (GRCm39) missense probably damaging 1.00
R9115:Or52h2 UTSW 7 103,838,931 (GRCm39) missense possibly damaging 0.53
Predicted Primers PCR Primer
(F):5'- ACCCCAATAGCTCCATGTGTC -3'
(R):5'- ATGTGATCCTCATAGCCATCTC -3'

Sequencing Primer
(F):5'- CCATGTGTCGTCTCCTGGAG -3'
(R):5'- GTGATCCTCATAGCCATCTCCTACAC -3'
Posted On 2015-08-18